Combined oxidative phosphorylation defect type 17

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Combined oxidative phosphorylation defect type 17

Synonyms: COXPD17

Combined oxidative phosphorylation defect type 17 is a rare genetic mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive global development delay muscular hypotonia elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability pericardial effusion and a mild cardiac phenotype have been also reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Combined oxidative phosphorylation defect type 17?

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Advocacy Organizations

Cure Mito Foundation

Our mission is to empower families to come together with a common goal of finding treatments, and ultimately a cure, for this devastating disease.

United Mitochondrial Disease Foundation (UMDF)

Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.

MitoCanada

MitoCanada's mission is to create a world where all lives are powered by healthy mitochondria. We are dedicated to supporting Canadians living with mitochondrial disease by developing education and awareness programs, advocating to improve the health and quality of life of those living with mito at provincial and federal levels, and we fund research that is patient-focused and transformational.

MitoAction

MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.